遗传性耳聋分子诊断及梯级检测策略应用  

Molecular diagnosis of hereditary deafness and application of stepwise testing strategy

作　　者：曾焙枰 许红恩 毛璐 汤文学[3] Beiping Zeng;Hongen Xu;Lu Mao;Wenxue Tang(BGI College&Henan Institute of Medical and Pharmaceutical Sciences,Zhengzhou University,Zhengzhou 450052,China;Precision Medicine Center,Academy of Medical Science,Zhengzhou University,Zhengzhou 450052,China;The Research and Application Center of Precision Medicine,The Second Affiliated Hospital of Zhengzhou University,Zhengzhou 450014,China)

机构地区：[1]郑州大学华大基因学院与医药科学研究院,郑州450052 [2]郑州大学医学科学院精准医学中心,郑州450052 [3]郑州大学第二附属医院精准医学研究应用中心,郑州450014

出　　处：《遗传》2023年第1期29-41,共13页Hereditas（Beijing)

基　　金：郑州市协同创新项目(编号:18XTZX12004);河南省医学科技攻关计划联合共建项目(编号:LHGJ20190317)。

摘　　要：遗传性耳聋是人类最常见的感觉障碍之一,具有高度遗传异质性。目前常用的遗传性耳聋分子诊断方法包括基因芯片、Sanger测序、靶向富集测序和全外显子组测序等,诊断率可达33.5%~56.67%,但还有相当一部分患者不能进行及时有效的分子病因诊断。考虑到患者家庭的经济负担及目前全外显子组/全基因组测序仍相对昂贵,根据患者情况提供包含多种检测手段的梯级诊断策略至关重要。因此,本文对遗传性耳聋分子诊断现状以及梯级检测在遗传性耳聋分子诊断中的应用进行综述,以期为诊断策略的选择提供参考。Hereditary deafness is one of the most common sensory disorders in humans,and exhibits high genetic heterogeneity.At present,the commonly used molecular diagnostic methods include gene chip,Sanger sequencing,targeted enrichment sequencing,and whole-exome sequencing,with diagnosis rates reaching 33.5%–56.67%.However,there are still a considerable number of patients who can not get a timely and definitive molecular diagnosis.Furthermore,considering the economic burden on patients’families and the relatively high cost of whole-exome or whole-genome sequencing,it is vital to provide stepwise strategies combining multiple detection methods according to the phenotypes of patients.In this review,we evaluate and discuss the utility of molecular diagnosis and the application of stepwise testing strategies in hereditary deafness to provide reference for the selection of diagnostic strategies.

关 键 词：遗传性耳聋 遗传异质性 分子诊断 高通量检测 梯级检测 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]